SAG

S-antigen visual arrestin
OMIM: 181031, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red SAG in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.47

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Green SAG in Retinal disorders


Level 2: Ophthalmology
Version 8.86
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Oguchi disease-1, OMIM:258100
  • Retinitis pigmentosa 47, autosomal recessive, OMIM:613758
  • Retinitis pigmentosa 96, autosomal dominant, OMIM:620228
Tags
  • founder-effect
  • Q3_25_MOI
Red SAG in Structural eye disease


Level 2: Ophthalmology
Version 4.37
Latest signed off version: v4.0 (7 Aug 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Retinitis pigmentosa 47
  • Oguchi disease-1
  • 258100
  • 613758
  • Eye Disorders